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1230005002: Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5066165018 Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5066166017 Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400096011 A rare genetic skin disease characterized by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400097019 A rare genetic skin disease characterised by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5066165018 Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5066166017 Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5066167014 A rare genetic skin disease with characteristics of infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo and hyperpigmented macules of the trunk and face and areas of reticular hypo and hyperpigmentation of the extremities), palmoplantar keratoderma and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400096011 A rare genetic skin disease characterized by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400097019 A rare genetic skin disease characterised by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3397401001000112 Pigmentierungsdefekte-Palmoplantarkeratose-Hautkarzinom-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3397401001000112 Pigmentierungsdefekte-Palmoplantarkeratose-Hautkarzinom-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Ectodermal dysplasia with hair-nail defect true Inferred relationship Existential restriction modifier (core metadata concept)
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Congenital alopecia true Inferred relationship Existential restriction modifier (core metadata concept)
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Genetic disorder of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Hereditary cancer-predisposing syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Genetic disorder of skin pigmentation (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a Dystrophia unguium true Inferred relationship Existential restriction modifier (core metadata concept)
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Finding site Entire skin of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Finding site Entire skin of sole of foot true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Associated morphology Pigment alteration true Inferred relationship Existential restriction modifier (core metadata concept) 6
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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